A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - The NARP syndrome
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - The NARP syndrome
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DOI：
10.1016/j.gene.2012.12.066
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发表时间：
2013-02-25
期刊：
影响因子：
3.5
通讯作者：
Frederiksen, Anja L.
中科院分区：
文献类型：
--
作者：
Duno, Morten;Wibrand, Flemming;Frederiksen, Anja L.
原型NARP综合征几乎完全与线粒体ATP合酶第六亚基中的m.8993T>C/G突变相关，而MT-ATP 6基因中的其他突变主要与Leigh综合征或Leber遗传性视神经病变（LHON）相关。我们报告了一个新的线粒体点突变，m.8989G>C，在一个病人提出神经病变，共济失调和视网膜色素变性构成的经典NARP表型。这种突变改变了紧挨着典型NARP突变的氨基酸。我们认为，经典的NARP综合征涉及到一个明确的功能障碍的p. MT-ATP 6。(C)2012爱思唯尔有限公司版权所有。
The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON). We report a novel mitochondrial point mutation, m.8989G>C, in a patient presenting with neuropathy, ataxia and retinitis pigmentosa constituting the classical NARP phenotype. This mutation alters the amino acid right next to canonical NARP mutation. We suggest that classic NARP syndrome relates to a defined dysfunction of p.MT-ATP6. (C) 2012 Elsevier B.V. All rights reserved.